Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism

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Publisher : Springer Science & Business Media
ISBN 13 : 3642849628
Total Pages : 188 pages
Book Rating : 4.6/5 (428 download)

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Book Synopsis Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism by : Ursula Gresser

Download or read book Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism written by Ursula Gresser and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inherited disorders of purine and pyrimidine metabolism in man lead to severe diseases. At the 2nd M}nchner Adventssymposium the state of the art as to the genetic basis, clinical aspects, and the biochemical basis has been given by leading experts in the fields concerning the following diseases: Hypoxanthine phosphoribosyltransferase deficiency (HGPRT-deficieny), adenine phosphoribosyltransferase deficiency (APRT-deficiency), hyperuricemia and gout, adenosine deaminase deficiency (ADA-deficiency, purine nucleoside phosphorylase deficiency (PNP-deficiency). All contributions of the symposium are published within this volume thus giving and overview of this most interesting field.

Purine and Pyrimidine Metabolism in Man VIII

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Publisher : Springer Science & Business Media
ISBN 13 : 1461525845
Total Pages : 814 pages
Book Rating : 4.4/5 (615 download)

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Book Synopsis Purine and Pyrimidine Metabolism in Man VIII by : Amrik Sahota

Download or read book Purine and Pyrimidine Metabolism in Man VIII written by Amrik Sahota and published by Springer Science & Business Media. This book was released on 2013-11-11 with total page 814 pages. Available in PDF, EPUB and Kindle. Book excerpt: These volumes record the presentations made at the VIII International Symposium on Purine and Pyrimidine Metabolism in Manheld at Indiana University, Bloomington, USA from May 22- May 27, 1994. This was a continuation of meetings held every three years with the idea of bringing clinicians and basic scientists together, which we hope results in cross-fertilization of ideas. Some of the papers presented in this volume represent oral contributions and others are from posters, but we emphasize that both are considered of equal merit. As is obvious from a perusal of the titles of the papers there has been a shift in the focus of this meeting, which reflects a general shift in the area of purine and pyrimidine metabolism. The emphasis has definitely shifted to gene structure and molecular genetics, with the beginnings we hope of gene therapy as an important branch of this area of science. Although many of the inherited diseases discussed in this text can be treated with drugs, the major thrust in the futurewill be in gene therapy, where the gene (or cDNA) will be used to treat the patient with enzyme deficiency, particularly if the patient is young. As can be seen from the Iist of authors there is a remarkable degree of international cooperation in this area across countries and continents. We thank the many participants who have attended these symposia many times, and we welcome the large group of scientists from Eastern Europe who are attending this meeting for the first time.

Purine and Pyrimidine Metabolism in Man IX

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Publisher : Springer Science & Business Media
ISBN 13 : 1461553814
Total Pages : 816 pages
Book Rating : 4.4/5 (615 download)

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Book Synopsis Purine and Pyrimidine Metabolism in Man IX by : Andrea Griesmacher

Download or read book Purine and Pyrimidine Metabolism in Man IX written by Andrea Griesmacher and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 816 pages. Available in PDF, EPUB and Kindle. Book excerpt: th th This volume comprizes articles presented at the joint IX International and 6 Euro pean Symposium on Purine and Pyrimidine Metabolism in Man held in Gmunden, Austria, June 1 through 7, 1997. Since the first of this series of meetings was held in Israel in 1973, conventions were organized every three years in different parts of the world including the USA, Japan, and Europe. The different aspects of purine and pyrimidine metabolism bring together re searchers working in molecular genetics, biochemical pharmacology, biochemistry, devel opmental biology, immunology, epidemiology and the clinics. Oriented research in the field has been seminal for the development of potent anticancer and antiviral drugs. As the number of genes which are cloned, grows, the understanding of metabolism is increas ingly enlarged and might provide leads to further improve therapeutic concepts and to bet ter understand mechanisms responsible for the development of resistance against these drugs. In certain diseases purine and pyrimidine analogs represent not only the drugs of choice but in fact are the sole therapeutic alternative at present. The field has also taken an early lead in attempting to correct inborn errors of purine and pyrimidine metabolism by gene therapy. The organization of this meeting involved a large number of people who dedicated their time in an effort to make this symposium a success. We thank the Abstract Review Committee, the International Advisory Board and in particular the Symposium Secretariat for doing a wonderful job.

Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism

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Publisher :
ISBN 13 : 9783642849633
Total Pages : 200 pages
Book Rating : 4.8/5 (496 download)

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Book Synopsis Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism by : Ursula Gresser

Download or read book Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism written by Ursula Gresser and published by . This book was released on 1993-08-10 with total page 200 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inherited disorders of purine and pyrimidine metabolism in man lead to severe diseases. At the 2nd M}nchner Adventssymposium the state of the art as to the genetic basis, clinical aspects, and the biochemical basis has been given by leading experts in the fields concerning the following diseases: Hypoxanthine phosphoribosyltransferase deficiency (HGPRT-deficieny), adenine phosphoribosyltransferase deficiency (APRT-deficiency), hyperuricemia and gout, adenosine deaminase deficiency (ADA-deficiency, purine nucleoside phosphorylase deficiency (PNP-deficiency). All contributions of the symposium are published within this volume thus giving and overview of this most interesting field.

Inherited Metabolic Diseases

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Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781729000
Total Pages : 454 pages
Book Rating : 4.7/5 (29 download)

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Book Synopsis Inherited Metabolic Diseases by : Georg Friedrich Hoffmann

Download or read book Inherited Metabolic Diseases written by Georg Friedrich Hoffmann and published by Lippincott Williams & Wilkins. This book was released on 2002 with total page 454 pages. Available in PDF, EPUB and Kindle. Book excerpt: This pocket size clinical reference provides concise information on diagnosis and management of inherited metabolic diseases. Topics in this handy guide cover approaches to metabolic diseases, specialized investigations of metabolic diseases, functional tests and additional diagnostic procedures, a system and symptom based approach to patients, and commonalities of therapy. Numerous tables and figures provide rapid access to individual items aiding in diagnostic and therapeutic decisions. This valuable resource is a useful tool for pediatricians, internists, neurologists, and clinical geneticists. Compatibility: BlackBerry(R) OS 4.1 or Higher / iPhone/iPod Touch 2.0 or Higher /Palm OS 3.5 or higher / Palm Pre Classic / Symbian S60, 3rd edition (Nokia) / Windows Mobile(TM) Pocket PC (all versions) / Windows Mobile Smartphone / Windows 98SE/2000/ME/XP/Vista/Tablet PC

National Library of Medicine Current Catalog

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Publisher :
ISBN 13 :
Total Pages : 690 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis National Library of Medicine Current Catalog by : National Library of Medicine (U.S.)

Download or read book National Library of Medicine Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on 1993 with total page 690 pages. Available in PDF, EPUB and Kindle. Book excerpt: First multi-year cumulation covers six years: 1965-70.

Neurocutaneous Disorders

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Publisher : Cambridge University Press
ISBN 13 : 9780521781534
Total Pages : 370 pages
Book Rating : 4.7/5 (815 download)

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Book Synopsis Neurocutaneous Disorders by : E. Steve Roach

Download or read book Neurocutaneous Disorders written by E. Steve Roach and published by Cambridge University Press. This book was released on 2004-01-08 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: 'The reader is most definitely in for a treat provides the essential clinical and genetic data which points the way to the future.'From the foreword by Roger N. RosenbergThe neurocutaneous disorders comprise a group of neurological disorders featuring skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, and psychiatric syndromes or seizures. This book provides an authoritative, illustrated review of the recognition, investigation, treatment and genetics of these disorders. It will be essential reading for neurologists as well as dermatologists, geneticists and pediatricians.

Atlas of Inherited Metabolic Diseases

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Publisher : CRC Press
ISBN 13 : 1138196622
Total Pages : 1762 pages
Book Rating : 4.1/5 (381 download)

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Book Synopsis Atlas of Inherited Metabolic Diseases by : William L Nyhan

Download or read book Atlas of Inherited Metabolic Diseases written by William L Nyhan and published by CRC Press. This book was released on 2020-07-14 with total page 1762 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features • Fully updated to incorporate all new developments in the field • Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others • Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management • Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.

Metabolic Diseases

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Publisher : IOS Press
ISBN 13 : 1614997187
Total Pages : 960 pages
Book Rating : 4.6/5 (149 download)

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Book Synopsis Metabolic Diseases by : E. Gilbert-Barness

Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.

HNE and Further Lipid Peroxidation Products

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Publisher : IOS Press
ISBN 13 : 9781586035860
Total Pages : 338 pages
Book Rating : 4.0/5 (358 download)

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Book Synopsis HNE and Further Lipid Peroxidation Products by : Werner Siems

Download or read book HNE and Further Lipid Peroxidation Products written by Werner Siems and published by IOS Press. This book was released on 2005 with total page 338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Focuses on products of lipid peroxidation used as biomarkers of oxidative stress. This book covers the entire field of HNE research, including subjects as Cell Cycle and Proteolysis, LPO Products, Antioxidants and Detoxification, Neurodegeneration and Aging, Lipid Peroxidation, HNE and Gene Regulation, Clinical Applications and HNE, and more.

Biomedical Index to PHS-supported Research: pt. A. Subject access A-H

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Publisher :
ISBN 13 :
Total Pages : 1064 pages
Book Rating : 4.:/5 (319 download)

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Book Synopsis Biomedical Index to PHS-supported Research: pt. A. Subject access A-H by :

Download or read book Biomedical Index to PHS-supported Research: pt. A. Subject access A-H written by and published by . This book was released on 1992 with total page 1064 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Biomedical Index to PHS-supported Research

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Publisher :
ISBN 13 :
Total Pages : 1216 pages
Book Rating : 4.F/5 ( download)

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Book Synopsis Biomedical Index to PHS-supported Research by :

Download or read book Biomedical Index to PHS-supported Research written by and published by . This book was released on 1995 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Atlas of Inherited Metabolic Diseases 3E

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Publisher : CRC Press
ISBN 13 : 1444149482
Total Pages : 889 pages
Book Rating : 4.4/5 (441 download)

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Book Synopsis Atlas of Inherited Metabolic Diseases 3E by : William Nyhan

Download or read book Atlas of Inherited Metabolic Diseases 3E written by William Nyhan and published by CRC Press. This book was released on 2011-12-30 with total page 889 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The third edition of this highly regarded book, autho

Human Gene Therapy

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Publisher :
ISBN 13 :
Total Pages : 794 pages
Book Rating : 4.3/5 (555 download)

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Book Synopsis Human Gene Therapy by :

Download or read book Human Gene Therapy written by and published by . This book was released on 1997 with total page 794 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Atlas of Metabolic Diseases Second edition

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Publisher : CRC Press
ISBN 13 : 144411459X
Total Pages : 801 pages
Book Rating : 4.4/5 (441 download)

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Book Synopsis Atlas of Metabolic Diseases Second edition by : William Nyhan

Download or read book Atlas of Metabolic Diseases Second edition written by William Nyhan and published by CRC Press. This book was released on 2005-08-26 with total page 801 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, auth

Biomarkers in Inborn Errors of Metabolism

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Publisher : Elsevier
ISBN 13 : 0128029188
Total Pages : 477 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Biomarkers in Inborn Errors of Metabolism by : Uttam Garg

Download or read book Biomarkers in Inborn Errors of Metabolism written by Uttam Garg and published by Elsevier. This book was released on 2017-06-07 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. - Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens - Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers - Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism - Offers guidance on how to distinguish acquired causes from inborn errors of metabolism

The Inherited Metabolic Diseases

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Publisher :
ISBN 13 :
Total Pages : 616 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis The Inherited Metabolic Diseases by : John B. Holton

Download or read book The Inherited Metabolic Diseases written by John B. Holton and published by . This book was released on 1994 with total page 616 pages. Available in PDF, EPUB and Kindle. Book excerpt: